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Improved display of Germline mutations

May 14, 2018 | By Sander Tan

 

cbioportal_logo-300x72

 

The Hyve recently developed visualization for germline mutations in cBioPortal OncoPrint.

AstraZeneca-Logo-1 This feature was sponsored by AstraZeneca and has been shared with the community on www.cbioportal.org and on cBioPortal GitHub.

 

Use case

Inherited germline mutations can increase the probability of developing a tumor. This is for example well known for the BRCA genes in breast and ovarian cancer1, 2. Knowledge of these germline mutations can result in effective preventive measures.

Previously, germline mutations in cBioPortal could only be differentiated from somatic mutations in the mutation or patient view, by a red annotation in the protein change column in the Mutation view.

 

ScreenShot Oncoprint1

 

 

New functionality

In cBioPortal 1.13.0 and later, germline mutations will have a white horizontal bar across their oncoprint rectangle. This will allow the user to easily differentiate them from somatic mutations.

 

ScreenShot Oncoprint2

 

When hovering over a patient with a germline mutation, the germline status will be displayed in the pop-up box.

 

ScreenShot Oncoprint3

 

For support loading the mutation data in the right format to use this feature or other questions regarding this improvement or other projects we worked on, do not hesitate to contact us.

 

References:

  1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4872307/
  2. https://www.nature.com/articles/ng.569

 

Project Sponsor

This work has been sponsored by AstraZeneca and released to the OpenSource community of cBioPortal.